ClinVar Miner

Variants studied for familial hyperlipidemia

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
2174 1361 3272 3469 708 7 2 16 8854

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
LDLR 1791 1214 1227 987 188 0 0 4 4019
APOB 144 45 916 1576 278 0 0 4 2489
PCSK9 41 22 695 496 95 5 0 5 1181
LDLRAP1 35 12 112 245 27 0 0 0 402
LPL 56 30 105 22 34 2 0 2 226
APOB, LOC106560211 6 5 46 51 19 0 0 0 115
LIPC 4 1 46 8 12 0 0 0 67
CETP 4 4 18 9 33 0 0 0 65
LDLRAP1, LOC129929773 9 2 23 31 2 0 0 0 61
LDLR, MIR6886 20 4 11 16 4 0 0 0 46
APOC2, APOC4-APOC2 12 0 18 4 8 0 0 0 39
APOB, APOB3'MAR 1 0 23 18 4 0 0 0 37
APOE 13 6 9 4 0 0 0 1 31
GPIHBP1 14 8 6 0 0 0 0 0 23
APOA5 6 1 4 0 0 0 0 0 10
GHR 0 0 5 1 0 0 1 0 7
LDLR, LOC126862855, LOC126862856 7 0 1 0 0 0 0 0 7
ABCA1 0 0 3 0 0 0 0 0 3
APOA5, LOC108491825 0 2 0 0 1 0 0 0 3
CETP, LOC130059064 0 0 0 1 2 0 0 0 3
LDLR, LOC126862855 1 1 0 0 1 0 0 0 3
AMPD1 0 0 2 0 0 0 0 0 2
C19orf38, CARM1, DNM2, LDLR, MIR199A1, SMARCA4, TIMM29, TMED1, YIPF2 1 0 1 0 0 0 0 0 2
DOCK6, LDLR 2 0 0 0 0 0 0 0 2
EPHX2 0 0 1 0 0 0 1 0 2
LDLR, LOC126862856 2 1 0 0 0 0 0 0 2
AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, DNM2, DNMT1, FDX2, ICAM1, ICAM3, ICAM4, ICAM5, ILF3, KEAP1, KRI1, LDLR, MIR199A1, MRPL4, PDE4A, QTRT1, RAVER1, S1PR2, S1PR5, SLC44A2, SMARCA4, TIMM29, TMED1, TYK2, YIPF2, ZGLP1 1 0 0 0 0 0 0 0 1
APOA2 1 0 0 0 0 0 0 0 1
AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, LDLRAP1, LIN28A, MAN1C1, MTFR1L, PAFAH2, PAQR7, PDIK1L, SELENON, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZNF593, ZNF683 1 0 0 0 0 0 0 0 1
BSND, PCSK9 0 1 0 0 0 0 0 0 1
CBS 0 1 0 0 0 0 0 0 1
LDLR, LOC126862855, LOC126862856, MIR6886 1 0 0 0 0 0 0 0 1
LDLR, SMARCA4 1 0 0 0 0 0 0 0 1
STAP1 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 158
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 846 199 992 2746 424 0 0 0 5205
LDLR-LOVD, British Heart Foundation 576 789 117 178 26 0 0 0 1686
Color Diagnostics, LLC DBA Color Health 111 79 680 610 113 0 0 0 1585
All of Us Research Program, National Institutes of Health 73 53 662 369 24 0 0 0 1181
Illumina Laboratory Services, Illumina 10 8 632 153 185 0 0 0 988
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 646 0 1 1 113 0 0 0 761
Fulgent Genetics, Fulgent Genetics 48 24 360 48 7 0 0 0 487
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 141 217 36 30 11 0 0 0 435
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 131 71 138 8 51 0 0 0 398
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 68 92 199 15 15 0 0 0 389
Robarts Research Institute, Western University 26 130 100 84 28 0 0 0 368
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 297 40 2 7 0 0 0 0 346
Fundacion Hipercolesterolemia Familiar 129 77 113 5 5 0 0 0 329
Natera, Inc. 54 19 123 70 28 0 0 0 294
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 87 44 125 6 22 0 0 0 284
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 79 100 13 5 4 0 0 0 201
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 137 49 3 1 7 0 0 0 197
OMIM 158 0 0 0 0 6 2 1 167
GENinCode PLC 0 0 0 0 160 0 0 0 160
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 81 72 3 0 0 0 0 0 156
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 137 3 14 1 1 0 0 0 156
Revvity Omics, Revvity 87 49 15 0 0 0 0 0 151
Genome-Nilou Lab 8 8 43 40 51 0 0 0 150
Iberoamerican FH Network 41 37 54 2 10 0 0 0 144
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 84 30 16 0 1 0 0 0 131
New York Genome Center 12 9 96 0 0 0 0 0 117
Institute of Human Genetics, University of Leipzig Medical Center 41 31 37 1 1 0 0 0 111
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 43 52 1 0 0 0 0 0 96
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 47 45 11 0 0 0 0 0 95
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 15 16 39 6 0 0 0 0 76
Juno Genomics, Hangzhou Juno Genomics, Inc 25 26 7 0 0 0 0 0 58
Mendelics 33 4 3 0 9 0 0 0 49
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 33 3 7 2 0 0 0 0 45
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 19 7 18 0 0 0 0 0 44
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 13 1 0 8 19 0 0 0 41
Cohesion Phenomics 0 0 0 7 34 0 0 0 41
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 15 4 1 10 8 0 0 0 38
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 18 6 9 0 0 0 33
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 13 8 9 1 0 0 0 0 31
MGZ Medical Genetics Center 11 12 5 0 0 0 0 0 28
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 3 13 11 0 0 0 0 0 27
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 10 13 0 0 0 0 25
Institute for Integrative and Experimental Genomics, University of Luebeck 0 11 0 13 0 0 0 0 24
3billion 10 8 5 1 0 0 0 0 24
Baylor Genetics 10 6 4 0 0 0 0 0 20
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 13 3 0 4 0 0 0 0 20
Neuberg Centre For Genomic Medicine, NCGM 7 5 8 0 0 0 0 0 20
Genetics and Molecular Pathology, SA Pathology 9 6 3 0 1 0 0 0 19
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 9 4 5 0 0 0 0 0 18
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 4 4 8 0 0 0 0 0 16
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 7 2 4 0 0 0 0 0 13
The Key Laboratory of Remodeling–Related Cardiovascular Diseases, Beijing Institute of Heart, Lung and Blood Vessel Diseases 13 0 0 0 0 0 0 0 13
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 7 5 0 0 0 0 0 0 12
Blueprint Genetics 4 4 2 1 0 0 0 0 11
Kazan State Medical University, Kazan State Medical University 1 2 8 0 0 0 0 0 11
DASA 8 2 0 0 0 0 0 0 10
Molecular Genetics, Royal Melbourne Hospital 5 1 2 0 2 0 0 0 10
Institute of Human Genetics, Medical University Innsbruck 1 4 4 0 0 0 0 0 9
GeneReviews 1 0 0 0 0 0 0 8 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 3 0 0 0 0 0 0 9
deCODE genetics, Amgen 2 7 0 0 0 0 0 0 9
Centogene AG - the Rare Disease Company 2 3 3 0 0 0 0 0 8
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 6 0 0 2 0 0 0 0 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 3 2 0 0 0 0 0 8
Institute of Immunology and Genetics Kaiserslautern 3 3 2 0 0 0 0 0 8
Reproductive Health Research and Development, BGI Genomics 1 3 1 0 2 0 0 0 7
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 2 5 0 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 3 3 0 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 1 1 0 0 0 0 0 6
Arcensus 3 3 0 0 0 0 0 0 6
SNPedia 0 5 0 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 0 0 5
Phosphorus, Inc. 0 0 5 0 0 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 3 2 0 0 0 0 0 0 5
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 1 0 0 0 5
GBinsight Genetic Testing by GB HealthWatch, Genben Lifesciences Corporation 1 3 1 0 0 0 0 0 5
MVZ Medizinische Genetik Mainz 2 1 2 0 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 3 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 1 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 4 0 0 0 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 1 0 0 0 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 0 0 4 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 3 0 0 0 0 0 4
Fundacion Favaloro, PRICAI 3 1 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 3 1 0 0 0 0 0 4
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 2 2 0 0 0 0 0 0 4
First Hospital of Lanzhou University, Lanzhou University 1 2 1 0 0 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 2 1 0 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 3 0 0 0 0 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 0 0 2
MVZ Dr. Eberhard & Partner Dortmund 0 1 1 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 0 0 2
idemuth, Charité - Universiätsmedizin Berlin 0 0 0 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 1 1 0 0 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 2
Department of Endocrinology, The Affiliated hospital of QingDao University 0 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 0 0 2
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 1 1 0 0 0 0 0 0 2
Division of Medical Genetics, University of Washington 2 0 0 0 0 0 0 0 2
Laboratory of Human Molecular Genetics, Petersburg Nuclear Physics Institute named by B.P.Konstantinov of NRC "Kurchatov Institute" 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 0 0 1 0 0 0 0 2
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 2 0 0 0 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 2 0 0 0 0 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 0 0 0 0 0 0 0 2
Research Laboratories, P. D. Hinduja Hospital & MRC 2 0 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 0 2
Biology of Aging working group, Charite - Universitätsmedizin Berlin 2 0 0 0 0 0 0 0 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 0 1 0 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 0 1
Genetics Department, Polish Mother's Memorial Hospital Research Institute 0 1 0 0 0 0 0 0 1
Cardiology Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 1 0 0 0 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 1 0 0 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 0 1
Pars Genome Lab 0 0 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 0 1 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 0 0 1
Department of Cardiology, Government Medical College 1 0 0 0 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 1 0 0 0 0 0 0 0 1
Interventional Cardiology Department, Nhan Dan Gia Dinh Hospital 0 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 1
Department of Clinical Chemistry, Walailak University 0 1 0 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 0 0 1
Cardiology Department, Cho Ray Hospital 0 0 1 0 0 0 0 0 1
Shanghai Diabetes Institute, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine 1 0 0 0 0 0 0 0 1

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